ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.815-27T>C (rs118161496)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198391 SCV000251972 pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing Expression studies of the c.815-27 T>C sequence change found that this variant impairs mRNA splicing resulting in a 80% decrease in complex I assembly and function (Tucker et al., 2012; Wydro et al., 2013). Therefore, based on the currently available information, the c.815-27 T>C variant is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded.
Ambry Genetics RCV000210589 SCV000262906 pathogenic Inborn genetic diseases 2014-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV000198391 SCV000493198 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000198391 SCV000511195 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660543 SCV000782648 likely pathogenic Mitochondrial complex I deficiency 2017-05-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249675 SCV001423626 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 21 2018-06-15 criteria provided, single submitter clinical testing [ACMG/AMP: PS3, PP3, PP5, BS1] This alteration is supported by well-established in vitro or in vivo functional studies to have a damaging effect on protein function or splicing [PS3], is predicted to be damaging by multiple functional prediction tools [PP3], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5], has an allele frequency that is greater than expected for the associated disease [BS1].

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